The velo-cardio-facial syndrome: the spectrum of psychiatric problems and cognitive deterioration at adult age.

Autor: Evers LJ; Koraal Group, MFCG, Multi-Disciplinary Centre for Dual Disabilities, Heel, The Netherlands. revers@stanna.koraalgroep.nl, De Die-Smulders CE, Smeets EE, Clerkx MG, Curfs LM
Jazyk: angličtina
Zdroj: Genetic counseling (Geneva, Switzerland) [Genet Couns] 2009; Vol. 20 (4), pp. 307-15.
Abstrakt: The velo-cardio-facial syndrome: the spectrum of psychiatric problems and cognitive deterioration at adult age: Deletion 22q11.2 syndrome, or the velo-cardio-facial syndrome (VCFS), is a syndrome with a known but varied clinical and behavioral phenotype. We report 7 patients with 22q11.2 deletion syndrome and an intellectual disability. Aside from the described behavioral phenotype in literature, a moderate, severe or profound intellectual disability may be present. Special attention should be given to cognitive deterioration.
Databáze: MEDLINE